神経線維腫症I型

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter)	NF1	Pathogenic	17	29652877	29652877	C	G	criteria provided, single submitter	ClinGen:CA399007009
Deletion	NM_001042492.3(NF1):c.4998del (p.Pro1667fs)	NF1	Pathogenic/Likely pathogenic	17	29652996	29652996	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798769
single nucleotide variant	NM_001042492.3(NF1):c.6642+1G>A	NF1	Pathogenic	17	29664601	29664601	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399013596
Deletion	NM_001042492.3(NF1):c.6704+2del	NF1	Pathogenic	17	29664900	29664900	GT	G	criteria provided, single submitter	ClinGen:CA658761093
Deletion	NM_001042492.3(NF1):c.422_437del (p.Val141fs)	NF1	Pathogenic	17	29490336	29490351	GGTTTTATTTTCTCTCA	G	criteria provided, single submitter	ClinGen:CA658798757
single nucleotide variant	NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter)	NF1	Pathogenic/Likely pathogenic	17	29556136	29556136	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398984104
Duplication	NM_001042492.3(NF1):c.3261dup (p.Glu1088Ter)	NF1	Pathogenic	17	29559153	29559154	C	CT	criteria provided, single submitter	ClinGen:CA658798770
single nucleotide variant	NM_001042492.3(NF1):c.3703C>T (p.Gln1235Ter)	NF1	Pathogenic	17	29560226	29560226	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398990746
Duplication	NM_001042492.3(NF1):c.4436dup (p.Leu1480fs)	NF1	Pathogenic	17	29587387	29587388	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798800
Deletion	NM_001042492.3(NF1):c.7256_7257del (p.Leu2419fs)	NF1	Pathogenic	17	29676204	29676205	CTG	C	criteria provided, single submitter	ClinGen:CA658798780